Prenatal diagnosis id the identification or detection of diseases and other genetic impairments in the unborn baby. Because science has come a long way and with the help of the technological advancements this kind of achievement is possible. What most doctors do is a prenatal screening as a routine for all mothers which includes the history taking from the mother and the routine blood tests done on a mother. The more formal methods pf testing for these abnormalities is not done on all mothers because it is very expensive to provide such services as a routine for all pregnant women. So it is done only when the doctors suspect that something can be going wrong with the pregnancy and then such testing is warranted.
What are these circumstances?
The times when the doctors think that the mother needs to undergo this type of genetic disorders testing is when there is a strong family history of genetic disorders. For example multiple family members have been affected by the same genetic disorder, which means this pregnancy also has a high risk of developing such an abnormality. And if she has had any complications like Rh isoimmunization in her past pregnancies which can lead to complications in this pregnancy. Or if some abnormality has been detected in the blood tests that the mother undergoes in the booking visit of her pregnancy. For example a trisomy 21 for downs syndrome can be detected in the serum testing of the mother in the blood tests done at the booking visit.
If any of these circumstances do arise then the doctors offer the patients two options. They can wither go for non-invasive procedures here like the ultrasound scan and the nifty test or they can opt for a more invasive procedure such as chorionic villus sampling or amniocentesis. The ultrasound scan is the most commonly used test to detect abnormalities such as neural tube defects and nuchal thickness which can give the doctors some idea is the child has any genetic disorder as well. If they do suspect it at this point they suggest that the parents go in for more specific testing. Nifty is the other test they can undergo which relies on the blood drawn from the mother. This test can also be used for gender identification along with obtaining information about genetic disorder.
But when asking the parents to go for such a procedure the doctor shave to consider a lot of factors that justify opting for the procedure such as the relevance, and if making a definite diagnosis will in any way help the disease or alter their current management of the mother, and what is the sensitivity rate of the test. Taking into consideration all of this the doctors together with parents must come to a decision.Top